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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS6KA3
Single nucleotide variant
(intron variant)
Coffin-Lowry syndrome
GUncertain significance
RPS6KA3
(E233*)
Single nucleotide variant
(nonsense)
Coffin-Lowry syndrome
GPathogenic